Author

Alaa Al Assi

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Open access Sep 2026

A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott-Rallison syndrome.

The first deep intronic EIF2AK3 variant causing Wolcott-Rallison syndrome is reported, highlighting the need to consider systematic intronic analysis in unresolved cases.

Alaa Al Assi, G. Bonfield, J. Russ-Silsby et al. · Diabetic Medicine · 0 citations